Partners in Progress: Families and Scientists Catalyze Research for Rare Diseases

“Partners in Progress:  Families and Scientists Catalyze Research for Rare Diseases”

On Nov. 15, 2017, Baylor College of Medicine and Texas Children’s Hospital hosted a panel discussion as part of theEvenings with Genetics seminar series held at the Children’s Museum of Houston. The topic was “Partners in Progress:  Families and Scientists Catalyze Research for Rare Diseases” and panelists traveled from both coasts and the center of the country. Panelists included Jill Chertow Franks, President, Propionic Acidemia Foundation; Cynthia Le Mons, Executive Director of the National Urea Cycle Disorder Foundation, Tracy Smith Hart, Chief Executive Officer, Osteogenesis Imperfecta Foundation and Brendan Lee, MD, PhD, Robert and Janice McNair Endowed Chair, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine. These family/scientist partnerships are a new and exciting development in the research efforts for those impacted by rare diseases.

The audience of almost 80 people consisted of parent leaders, rare disease foundations, medical students, genetic counseling students, pharmaceutical companies and undergraduate biotech majors. Each panelist discussed the partnerships with rare disease organizations and scientists and their strategies for success in obtaining funding for research from the National Institutes of Health (NIH). In addition, panelists shared how they became involved in the rare disease organization and offered advice for other rare disease organizations as well as researchers with regards to working together to submit requests for funding. Dr. Brendan Lee discussed the positive impact of family/scientist partnerships and that these collaborations highly beneficial for progress in understanding rare disorders and developing effective therapies.

Susan D. Fernbach, RN, BSN

Director of Genetic Outreach

Director of Diversity and Community Engagement

Assistant Professor, Dept. Molecular and Human Genetics

Baylor College of Medicine/Texas Children’s Hospital

Annabelle’s Transplant

Annabelle’s Transplant

Annabelle Grace was born September 20, 2016 and like many children with Propionic Acidemia (PA) she went Annabelle Birthinto metabolic crisis a couple of days after birth.  After talking to our genetics team in December 2016 we started pursing the option of a liver transplant for Annabelle.  Even though we managed Annabelle’s care so meticulously she would still end up in the hospital every couple of months for high ammonia levels above 100 (often for no reason and with no detected illness).  Annabelle had a g-tube placed when she was two weeks old, but even with pushing fluids and using sick day formulas we found it difficult to keep her metabolically stable (we checked her ketones EVERYDAY). We tried Carbaglu (which is supposed to help lower ammonia) along with high doses of Carnitine and Bicitra (Sodium Citrate), and those medications didn’t even seem to help control her metabolic instability. Her ammonia on a “good day” seemed to hover inthe 60’s or 70’s, and even the night before her transplant her ammonia was 71. We realized early on that Annabelle had a very severe mutation, and we were told by many medical professionals that she was one bad illness away from another metabolic crisis that could cause serious brain damage.

After talking with other families we were told that the Children’s Hospital of Pittsburgh was the place to go for transplant. The only liver transplant option in our state (North Carolina) was Duke University, but they had never performed a liver transplant on a child with PA.  In April 2017 we ventured up to Pittsburgh, PA for Annabelle’s liver transplant evaluation and immediately fell in love with everything this hospital had to offer.  Annabelle was officially listed for transplant on May 2, 2017.  We immediately started fundraising and used the assistance of COTA (Children’s Organ Transplant Association) which we cannot recommend enough.  Within three months our team of volunteers raised over $50,000 for COTA in Honor of Annabelle to help with any transplant-related expenses.

On August 9, 2017 we got “the call” that would forever change our lives, and we quickly rushed to Pittsburgh.  We Annabellewere very fortunate that our first call was “the call” that gave Annabelle her new liver.  She went back for surgery around 10:30pm that night and they finished her surgery around 9am that next morning.  After surgery Annabelle spent about one week in the PICU. After that week the transplant team moved herto the transplant recovery unit where she stayed until she was discharged.  Around two weeks post-transplant Annabelle did encounter a small episode of rejection.  Even though “rejection” sounds scary it is very common early on in transplant, and mild cases like Annabelle’s are generally treated with some high-powered IV steroids for a few days.  Annabelle was discharged on August 30th and only spent a total of 21 days in the hospital. The transplant/genetics teams in Pittsburgh told us to prepare for complications (as is common with Organic Acidemia patients), but overall Annabelle had very few complications from her transplant surgery for which we are thankful.

After getting discharged we were required to stay in the Pittsburgh area until the transplant team decided she was stable enough to return home to North Carolina.  Luckily, the Ronald McDonald House there is amazing, and instead of hotel rooms they have small one-bedroom apartments making it possible to live there for an extended period of time.  Plus, it is one of the few Ronald McDonald Houses where it is connected to the hospital, so even when Annabelle was inpatient we were able to easily access their services (homemade meals, laundry, therapy pets, etc.).   We stayed in Pittsburgh until late November mainly going to the hospital for weekly labs, therapies, and clinic visits.  The team had to keep changing her medications weekly so that her liver numbers and her EBV levels (Epstein-Barr Virus that she acquired from her donor) maintained a healthy balance.   Our total stay in Pittsburgh was a little over three months, which we were prepared for since the transplant team told us prior to surgery to expect to stay there anywhere from three to six months depending on the amount of complications.

Since we’ve been home it has been a bumpy road.  The transplant team told us that the first winter post-transplant is always very difficult and they were right! Annabelle has been living in a bubble all winter, but she has still been in and out of the hospital the past few months due to illnesses from her immunosuppression.  When we do have to go to the hospital its more for treating the illness caused from her immunosuppression rather than treating her underlying metabolic disorder. When you get a liver transplant it really is just trading out one disease (PA) for the other (transplant) in hopes that treating the transplant gets easier in time.

Even though the liver transplant brings a whole new set of issues (more frequent bloodwork, more meds, life-long Annabelle January 2018immunosuppression), we know that Annabelle is more metabolically stable on a day-to-day basis. Even when she does get sick we don’t worry as much about the significant possibility of brain damage because her ammonia levels stay within the normal range or are only slightly elevated.  The highest her ammonia has gotten post-transplant has been 98 (from frequent vomiting), and her new normal on a “good day” now averages in the 30’s.  It’s also been amazing to see the developmental progress she’s been making post-transplant.  She’s so much more alert, and her overall energy level and muscle tone have increased greatly.

Since Annabelle’s transplant we have been able to come off of Carbaglu and Bicitra, but she is still receiving Carnitine (which we were told she’ll be on for the rest of her life). Her feeding skills are still lacking, and getting her to eat by mouth is still a struggle. However, she’s getting feeding therapy and making progress so we are hopeful that she’ll eventually eat enough food by mouth to come off of her formula.  Her protein intake can be less restricted now, but since she’s primarily tube fed her metabolic dietician has been conservative (1.3g/kg) and hasn’t tried to push her protein as long as her amino acids stay within the normal range.  The main food advantage post-transplant is that we don’t have to weigh her solid foods now and we just go by the nutrition label.  Also, if she throws up we don’t have to immediately pump more formula back in her; now we just let it go unless the vomiting becomes excessive.   There’s a lot more wiggle room in her overall stability,and we aren’t “living on the edge” every single day like we were pre-transplant.

We know the decision to transplant your child is a difficult one, and we’re very open to discussing our journey with any families that would like to speak with us.  Please feel free to see more about our journey at where you’ll be able to find our blog posts, as well as, a link to Annabelle’s Facebook Page where you can see photos and videos from our transplant journey.

Sincerely,Annabelle's Family May 2017

Mike, Charity, and Annabelle

Nila B.

Nila’s Story

Nila Rechelle was born 1/6/12 at 4:02am via emergency cesarean. She was three weeks early and weighed in atNila Pic 6lbs 4oz and 19 inches long. She passed all initial screenings and appeared to be a healthy baby girl. She did struggle to latch, so I pumped and bottle fed her. She did not make any attempt to suck whether it be breast or bottle. The first day she was able to keep the breastmilk down, but then I was unable to produce anything, so we introduced formula to keep her fed. Shortly after the first formula, Nila began to projectile vomit anything that went in. Joe and I were concerned for her not being able to keep anything down. The nurses over and over tried reassuring us this was completely normal for a new baby. The next day Nila began to turn jaundice on us. She had to stay under bilirubin lights 24 hours a day and only out of the incubator to feed and diaper changes. Her color was improving minimally and her feeding seemed to improve slightly. She had to stay in the hospital an extra day. The doctor released us and we went home. All seemed well for the first few days home with the exception of a few vomiting episodes. Then, we received a call from our pediatrician letting us know we needed to take her to the hospital the next morning for additional blood spots and urine analysis. He let us know her newborn screening came back with signs of a metabolism disorder similar to PKU. He scheduled her first appointment with Riley Children’s Hospital in Indianapolis the following Monday with the Genetics team. The blood and urine were rushed off to Duke and we worried and waited impatiently for Monday. We got to Riley and met the team, they informed us of her diagnosis of Propionic Acidemia. This was a huge blow for us. How could our perfect baby girl have to deal with such a terrible disease? How were we going to manage this? So many questions and so many unknowns. Lucky for us, we came in contact with several families through Facebook forums and the dieticians and genetics counselor became family and we were in constant contact. What seemed so scary at first, motivated us and we learned so much and found out it wasn’t as terrible as we thought.

Nila struggled with her initial milestones such as holding her head up, rolling and crawling. She had Physical Therapy, Occupational Therapy, and Developmental Therapy several times each week. Once we strengthened her tiny muscles she took off. She zoomed through her milestones! She walked right before 10 months and then she was released from therapy. She has had 17 hospital stays and many more lengthy ER visits for D10 fluid boosts. Ear infections, gastrointestinal bugs and the periodic cold were the main reasons for her hospital stays and visits. The only metabolic stay was a 1 week stay after she had gotten RSV. We were close to getting a tube in but Nila got stronger each day with her sick formula and D10 and started eating again. To date, she presents as a mild case of PA, but we do not take that lightly as she may began to show late onset symptoms as she gets older.

She has always eaten by mouth. She was recently taken off of her metabolic formula and she loves it! She has an extra 8 grams to eat in regular foods in addition to the 28 grams she already gets through food. She enjoys mac-n-cheese, chips, mushrooms, fries, fruits of all kinds, pickles and popsicles galore. Our biggest struggle now is to make sure she gets her daily protein intake goal met and to make sure she is not sneaking food.

Nila is thriving and doing everything a 6 year old girl is able do! Nila started Kindergarten this past fall and she is one of the top students in her class. She was selected to participate in the High Ability class at one of our local schools. She is smart as a whip and is learning so much in her outdoor kindergarten class. She loves gymnastics, playing softball, riding her bike, fishing, gardening, painting nails and doing her make-up, digging for worms, exploring outdoors and making mud slime!

Mindfulness Meditation

Mindfulness Meditation

An Ancient Tradition with Practical Application

Vicki Ancell Sheahen, MBA, CPC, CCC

Pathway Coaching

“We cannot stop the waves, but we can learn to surf” Jon Kabat-Zin

Meditation has taken its rightful place in western society. The benefits of meditation, from reducing stress, modulating hormonal functioning, especially of oxytocin and cortisol,and reducing the intensity and frequency of negative and chronic stress reactions are now being documented and used by medical doctors, medical clinics, such as Mayo, and many other professionals today.

Meditation strengthens our ability to cope with difficult emotional experiences and increase emotional wellbeing by mitigating negative thinking, including rumination. Meditation as a way of being teaches us to manage the “narrative” in our head and helps us become emotionally proactive rather than reactive.

Mindfulness Meditation is a method that focuses on our breathing, noting when our mind wanders, and gently returning our attention back to our breath. This focus on our breath, noting our wandering mind and returning to our breath is training our brain to be focused and present in our daily lives, what Dan Harris calls the “off the bench benefits” of meditation. The goal of meditation is not to empty our mind, which is impossible, but to focus on the present in spite the narrative in our head.

Basic Breath Meditation

In my practice, when working with new student meditators, I recommend practicing 5 to 10 minutes a day. I also recommend finding a group or meditation coach in your area to help you grow and refine your practice. Set a timer so you are not worried about the time; 5 minutes is a very good and doable start.

Read the instructions below

When comfortable -set your timer for 5 minutes and begin

Find a comfortable position in which to sit for this period. As you allow your eyes to gently close, tune into your body and make any minor adjustments. It can be helpful to remember our intentions of both ease and awareness. Sit in a way that feels comfortable but alert.

We’ll start with a few minutes of concentration practice, just to help our minds settle and arrive in our present time meditation experience.Take a cleansing breath in and feel how the breath awakens your senses. As you breath out, imagine breathing out any tension, stress, or anxiety.

Now allow your body to resume its natural breathing and see where in the body you can feel the breath. It may be in the stomach or abdomen, where you can feel the rising and falling as your body breathes. It might be in the chest, where you may notice the expansion and contraction as your body inhales and exhales. Perhaps it’s at the nostrils, where you can feel a slight tickle as the air comes in, and the subtle warmth as your body exhales.

You can pick one spot to stay with for this meditation practice. As you become a witness to your breathing, we will use “labeling the breath” as a technique to help you stay focused. As you breathe in with awareness say silently to yourself “in” and on exhaling, say silently to yourself “out”.Remember that labeling the breath is a tool to help build concentration and focus and is not a measurement of how good a meditator you are.

You will notice your mind wandering. When your mind wanders, and it always will, we are being offered an opportunity to cultivate mindfulness and concentration. Each time we notice our mind wandering, we’re strengthening our ability to recognize our experience. Each time we bring the mind back to the breath, we’re strengthening our ability to focus on an object in the present moment. Treat this as an opportunity rather than a problem, and return to your “in” breath.


10% Happier: Dan Harris

Meditation for Fidgety Skeptics: Dan Harris, Jeff Warren, Carlyle Adler

Wherever You Go There You Are – Jon Kabat-Zin

Arriving at your own Door: 108 Lessons in Mindfulness – Jon Kabat-Zinn

No Time Like The Present- Jack Kornfield

Meditation Apps

10% Happier


Simply Being


Next Steps for the Propionic Acidemia Nutrition Guidelines

Next Steps for the Propionic Acidemia Nutrition Guidelines

Elaina Jurecki MS, RD and Keiko Ueda, MPH, RD, PROP Workgroup Chairs

The Propionic Acidemia (PROP) workgroup has successfully completed the development of the Nutrition Management Guideline for PROP, a collaborative effort between Genetic Metabolic Dietitians International (GMDI) and the Southeast Regional Genetics Network (SERN)*.  Any recommendations, such as these, are not effective unless there are tools to help implement them. The next step is to develop a tool kit to help support this endeavor. The PROP tool kit will provide practical examples for metabolic dietitians and other clinicians to apply the Nutrition Guidelines in caring for their patients living with propionic acidemia.  We aim for the PROP toolkit to be available by Spring 2018 on the Nutrition Guidelines webpage via: or  We also plan for the PROP Nutrition Guideline manuscript to be submitted for publication in a peer-reviewed medical journal by the end of this year.

In February 2017, the Nutrition Guidelines Core group and PROP Workgroup Chairs had a meeting with patient advocates representing PAF and the Organic Acidemia Association (OAA).   It was determined that a Summary Sheet with an accompanying Frequently Asked Question (FAQ) sheet would be helpful for patients, families and caregivers living with PROP.

The Summary Sheet is a one-page list of things to consider and discuss with your metabolic team. This summary is not meant to provide medical advice. Some items addressed in the summary include when to contact your metabolic clinic, certain medications to consider, suggestions for sick day instructions, and what laboratory and physical assessments should be followed.  The Frequently Asked Questions (FAQ) sheet includes questions addressing such things as: Nutrient Intake (i.e. How much protein can I handle?)  and Supplements (i.e. Do I need isoleucine or valine supplements?). Other topics are Blood Monitoring, Illness, Liver Transplant and Pregnancy. Both the Summary and FAQ Sheets are resources that you can bring to clinic appointments to help identify topics to discuss about your/your child’s care. They can also be helpful in informing family and friends about PROP.

In June 2017 at the PAF Warrior Wisdom Conference in Deerfield, IL; the initial drafts of the PROP Summary and FAQ sheets were presented by Keiko Ueda and Amie Thompson, RD, LD, PROP Workgroup member to parents, adults living with PROP, PROP medical experts and researchers.  We received valuable feedback from participants that has been shared with our Nutrition Guidelines Core group to help update and improve the Summary and FAQ Sheets. We hope to finalize these tools and have them available on the PROP Nutritional Guidelines website in the near future. We greatly appreciated the opportunity to attend the 2017 PAF conference and network with families, PROP dietitians, medical experts and researchers.  We gained valuable insights from parents and patients living with PROP from their questions and challenges raised by implementation of the PROP Nutrition Guidelines.   

Consumer input is very helpful as we continue to develop tools to optimize nutritional management for individuals living with propionic acidemia (PROP/PA). If you would like to review and provide feedback as well as ask questions about the PROP Nutritional Guidelines, please visit the PROP Nutritional Guidelines webpage and fill out the feedback and comments form. Thank you!

*GMDI/SERN Nutrition Guideline Development is a HRSA Supported Partnership — Grant #UH7MC3077

What I Learned From Attending a Propionic Acidemia Conference By Heather McCarthy

Heather M.What I Learned From Attending a Propionic Acidemia Conference

By Heather McCarthy

I’m sitting in a conference room listening to researchers, doctors, and dietitians challenge each other. They’re questioning each other’s studies, pressing to gain more information, debating on best practices. This would normally sound like a nightmare, but I’m in heaven.

As a mom to two children with propionic acidemia, it’s music to my ears to sit in a room full of specialists wanting to find the best treatment, solutions, and care for my children and our rare community.

I had the privilege of attending the Propionic Acidemia Foundation’s Warrior Wisdom Conference. When you’re part of a rare community, you don’t always have the opportunity to meet likeminded people. Today I sit with 15 different affected families from 17 states and Canada. The room is full of doctors, dietitians, nurses, nurse practitioners, researchers, school support, and genetic counselors from 10 leading institutions.

From this conference, I learned that we may be small, but we are mighty. It’s understandable that researchers want to find a cure for the most common diseases. If you cure something that affects many, your cure has a greater impact. So to find so many people listening, challenging, and debating, I could not be happier. Research shows only one in 100,000 people in the U.S. are affected by propionic acidemia. While that puts us in a rare category, it also helps us to become even mightier. Every time we can get doctors and researchers to communicate, connect, and debate with each other, we become stronger. Every time we can bring families together to talk to each other, share stories, and help each other, we become mightier. Every time we can challenge nutritional guidelines, therapies, and funding, we become more powerful.

From this conference, I learned that we are important. Moms and dads, siblings, and other family members in the rare community always find each other important. This conference showed we are important to the researchers. We are important to the doctors. We are important to the nutritionists, to the genetic counselors, the nurses, to the undiagnosed, to the future medical field, and to the children who may be born with propionic acidemia.

Finally, I learned there is hope. I learned that together we can expand newborn screening processes, work to get coverage for medical formulas and foods, and begin drug trials and new studies. We can expand patient registries and open additional grants for new studies and research projects.

If you belong to a rare community, you are not alone. You can be rare and mighty at the same time. You are unique and you are important. Have hope!

The Propionic Acidemia Foundation is dedicated to finding improved treatments and a cure for propionic acidemia by funding research and providing information and support to families and medical professionals. To find out more, visit

PAF Attends 16th Abbott Nutrition Metabolic Conference

AN ConferencePAF Attends 16TH Abbott Nutrition Metabolic Conference

Advances in Management of Inherited Metabolic Disorders

March 23-25, 2017

By Marisa Cotrina, PAF board member


Abbott Nutrition invited Propionic Acidemia Foundation (PAF) to attend the annual nutrition metabolic conference this past March in the Isle of Palms, South Carolina. This conference brings together dietitians from around the country and Canada to discuss the advances and the challenges in the treatment of inherited metabolic disorders.

I had the honor to attend the conference on behalf of PAF and was very impressed by how well organized the dietitian community is and the diversity of initiatives they are constantly chasing to enhance communication for better dietary management of IMDs. However, the talks and discussions that took place at the conference also evidenced the need for more uniform and universal treatment guidelines. Two talks were of particular interest for propionic acidemia (PA) patients. Dietitian Elaina Jurecki presented the new evidence-based nutrition guidelines that were just finalized for the PA community; an initiative that started several years ago in collaboration with some of the best dietitians in the country and that is finally panning out in these series of guidelines that, hopefully, will make management of PA more uniform and effective in the USA.

For those dietitians new to PA, Dr. Loren Pena presented in a very clear and concise style the metabolic bases for understanding and treating PA. I was very grateful to see how Dr. Pena kindly advocated for the PA community and highlighted the role PAF and the patient organizations play in supporting new research initiatives to advance PA therapies. In this regard, I hope the excellent talk from Dr. Melanie Gilinghan on how to get started in clinical research sparked new ideas and interest in the audience to improve metabolic management and treatment through patient-directed clinical trials.

Among the talks for other disorders, it was very educational to listen to the panel of adult patients with PKU, and the need for nutrition and psychological counseling strategies for adults with metabolic disorders: how to deal with life in college, having children, dealing with brain fog when diet is not adjusted, communicating effectively with your partner and colleagues when feeling sick… Also in the arena of adult patients, Dr. Kiaer, from Denmark, described her journey on treating PKU adults with late diagnoses and discussed how, even in the case of adults with substantial brain damage, there is still opportunity for treatment to improve to some degree brain function and, more importantly, quality of life.

The topic of liver transplantation and how effective it may be in reversing and/or preventing metabolic damage was discussed in the context of MSUD with dietitian Melanie Reeves. It was clear from this talk the urgency to publish more data on liver transplantation from all the transplant units in the country so that patients and clinicians can make a more educated decision about the risks and benefits of this approach for the long-term management of metabolic disorders.

I also had the opportunity to learn about new innovations in the treatment of metabolic disorders: Telemedicine in the developing world with Dr. Hans Andersson, the metabolic diet app with nutritionist Alette Giezen, and inborn errors in the genomic era with Dr. Neil Lamb, an excellent 101 talk on what genomics is, and how we can apply it to diagnose and better understand inborn errors of metabolism.

Last, Dr. Mark Korson moderated an exercise with team ChoP and team Oregon to discuss two crucial topics in our community: 1) can metabolic disorders be managed without medical formulas?, and 2) when is it cost effective and ethically appropriate to include metabolic disorders in NBS? Although the discussions were not necessarily the professional views of the presenters, the arguments utilized were all based in real life cases. Excellent presentations from both teams and fantastic discussion.

Dietitians are a critical line of defense in the chronic management of PA, and we need to listen and work with them as much as with our medical doctors. Overall, a great learning opportunity for PAF

Evie Blade

Evelyn Blade – updated 3/5/2017

Evelyn Blade

Evelyn Blade

Evelyn Blade was born and everything seemed to be great. We took her home after 2 days and once home, she refused to nurse. I tried and tried and she would not stay awake long enough to latch. We thought it could be I just didn’t have any milk so we tried formula and she refused that also. We tried giving her a bath and she stayed asleep and throughout the first night her breathing became labored. The next morning we went to her Dr. to make sure everything checked out ok. The Dr. said that the symptom’s were “off” and sent us to Children’s Healthcare of Atlanta  to make sure nothing was wrong.
Once we checked in to CHOA’s ER, they quickly narrowed down what she had to 3 things: Meningitis, an infection, or a metabolic issue. She was put on a ventilator because they didn’t want her to get tired and stop breathing on her own since she was so small. After 4 hours of test, we were sent to the PICU with the diagnosis of a metabolic disorder.
We were greeted  by 15 people wanting consent for PIC lines and procedures along with 2 Genetic Drs. We were taken to a room where we were told that Evelyn was extremely sick and if they couldn’t get her ammonia down they would have to do dialysis and that sometimes they couldn’t on a baby that small. So basically, to not expect a great outcome. We were also told that if she did live through this, she would be severely handicapped.
That night, she started to have seizures and it was decided that dialysis was the only option. After 5 hours, her ammonia level started to rapidly decrease and she started to get better.  Her seizers stopped the next morning right after she was baptized (praise the Lord) and she started to drastically improve. We were told we would be in PICU for at least 4 weeks, if not 6.  Evelyn proved those Drs wrong. We were out of PICU in 1 week and spent a week in NICU step B getting the hang of her new diet.
Evie Blade is now 4 months old and blowing everyone away. Her diet team is amazing and I update them on her weight weekly so we can make sure she is getting the correct mix. She currently eats 21 oz of breast milk, 20 gms of Proprimex and 5ml of L-carnitine. She also eats 6, yes 6!, tablespoons of rice cereal. She eats everything by mouth. We have the tools to put an NG tube in incase she gets sick (we have had to do this 1 time for 2 days when she got a cold)
I have spoken to her dietitian and we think she went into crisis due to starvation and should be able to handle a decent amount of protein. We have her evaluated by a PT/OT person to make sure she is developing correctly and so far she is. We are aware that due to the seizure and crisis she was in, she might have learning disabilities, but when they come up, we will deal. Hopefully with early intervention, we can make her life as normal as possible.
We had Evie Blade via IVF. Because of this, we still have 8 frozen embryos that are all excellent quality. We plan on getting the 8 tested for the PA gene (we know Evelyn’s – she has 2 mutation, 1 only 1 person has reported having the other no one has reported having). The embryos that come back positive, we plan on donating for research specific to PA.

Grant and Sebastian

Grant and Sebastian

Updated May 2020

Family Story with COVID-19

For most of us COVID-19 has brought the world into our shoes for the first time.  The world has started to understand what cold and flu season is like for families who have a child with Propionic Acidemia.  For once we weren’t the only ones that were “paranoid” about our children getting ill and having to be hospitalized.

In some ways this is comforting, but in others it totally brought me to my knees.  We quickly not only became responsible for our child’s medical wellbeing, but also for their social emotional and academic well being.  While most of us have had to provide support to our children to ensure that they are progressing, I think few of us have had to take on the role of teacher, therapist, mom, nurse and also work a full time job all day everyday.

By occupation I am a teacher, but I’m not a special education teacher or a physical therapist, occupational therapist and speech teacher.  Even though we fight for our children every day, I think this has been a difficult journey.  It’s set a new normal not only for us, but for the world as a whole. It’s brought a new fear into our lives, with many unknowns.  Now even the typical hospital stay has become unnavigated waters, with new protocols put into place daily, sometimes hourly.  How do we fit all of it into 24 hours? For many of us the extended support system we have built has been cut, our home health nurses, therapists, teachers etc. have been removed, except for Zoom, and who are we kidding Zoom isn’t the same as people being in our homes and helping us, giving us an hour here or there of adult interaction.

Yes, these times are rough, but I know brighter days are ahead, or at least warmer ones.  Which brings about a whole new round of changes.  During the summer the park and pool are our go to places to keep the boys entertained.  Those options are gone for this summer. What are we to do? We’ve already been on an extended period of summer-like routine. How are we going to keep these kids cool and entertained for another 3 months?  For our family the answer was to redo, our luckily small, backyard into an entertainment area for the boys. One where they could go and be outside, but not have to be exposed to germs.  The backyard has been mulched, the blow up island has been inflated and the shade has been brought in. 

While some of this virus has familiarity to it because we deal with PA, much of it brings about new questions and possible issues.  And that can be scary, we are fortunate to have the PA community to reach out to.  Keep reaching out, share your joys, frustrations, fears, with us.  Ask for help when you need it and above all know for once, we aren’t the only one living in a sea of unknowns.  We are all in this together.  Our family hopes you have a wonderful adventure of some sort this summer.

Amber and John,

Grant and Sebastian,  Age 7

Grant and Sebastian

Grant and Sebastian M.


Our story with PA started out the same as many of yours.  Our sons were born looking perfectly healthy, besides being born six weeks early and being twins.  Everyone that saw them thought they looked wonderful and would go home from the NICU rather quickly.  However, that all changed on the sixth day of their life.  I got a call from the doctor in the NICU that Grant was struggling and had to be put on a ventilator, but they thought it was just a virus of some sort.  By the time I got to the hospital he was completely comatose and there were swarms of people around him.  They were trying to explain exactly what they thought had happened, but all I could understand at the time was that he was very sick and they didn’t know what to do.  They were running a lot of labs on him and his twin brother Sebastian to try and see if both boys had a metabolic issue of some sort.  We were quickly transferred to another hospital that had dealt with these types of conditions before.  While I can remember the whole day perfectly now, in the moment everything was a blur and I seemed to be just a spectator as they hooked both boys up to an abundant amount of machines that seemed so humongous in comparison to their little 4lb bodies.  They were too small for traditional dialysis, so they attempted to come up with a plan.  Fortunately there was actually a visiting geneticist who was interviewing for a position at the hospital that day, who mentioned he had heard of combining ECMO and dialysis to help patients who were very small.  This is what was decided as the best course of treatment for our sons.  I will never forget standing over my son as they hooked up IV’s and poked and prodded him, all without him making a single, solitary sound.  The ECMO and dialysis combination worked, even better than the doctors had anticipated and it seemed that both boys were on their way from catabolic to anabolic.  Over the course of the next few weeks, we learned all about PA and the life that would now be our new normal. It was quite the operation at our house to get them fed around the clock, once they came home, thankfully we had and continue to have amazing support from family. The boys have had many hospitalizations since they have come home and have definitely given me lots of new gray hairs, but they have come so far.  While our normal is being hospitalized with one or both of them at least once a month, they continue to grow and show us just how determined they are. They both started preschool this year and are riding the bus everyday to school.  Anyone they come into contact with quickly becomes a new friend.  It is so amazing to see how positively they affect the people that they come into contact with. It’s as if their personalities and happiness are contagious.

Mom of Grant & Sebastian

3 year old PA Superheroes